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Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6
American Journal of Medical Genetics
|October 1, 1986
Insights
Ring chromosome 6 in a premature infant caused multiple congenital anomalies, including aniridia, glaucoma, and hydrocephalus. This case highlights the wide spectrum of developmental issues associated with this rare genetic syndrome.
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Ring chromosome 6 is a rare chromosomal abnormality.
- It is associated with a range of congenital malformations.
- Neural crest-derived developmental abnormalities are key features.
Abstract:
A premature infant with unilateral aniridia and congenital ectropion uveae, contralateral Rieger anomaly, bilateral congenital glaucoma, and hydrocephalus was found to have ring chromosome 6. The findings are consistent with multiple manifestations of a neural crest-derived maldevelopment of the anterior segment and central nervous system. Comparison with the 14 previously reported cases of ring chromosome 6 illustrates the phenotypic variability of this syndrome.